Variant Results

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Results for "TPST1"

Variant Events: 9

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
TPST1	AU4264302	chr7: 65770253-65770253	G	A	intronic		De novo					-	-	Yuen2017 G
TPST1	SSC00592	chr7: 65705515-65705515	A	G	exonic		De novo	nonsynonymous SNV	NM_003596	c.A103G	p.I35V	12.78	-	Fu2022 E
TPST1	11089.p1	chr7: 65682581-65682581	G	A	intronic		De novo					-	-	Turner2016 G
TPST1	11441.p1	chr7: 65705515-65705515	A	G	exonic		Mosaic, De novo	nonsynonymous SNV	NM_003596	c.A103G	p.I35V	12.78	-	Dou2017 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
TPST1	AU1987301	chr7: 65835223-65835223	C	T	intergenic		De novo					-	-	Yuen2017 G
TPST1	2-0142-004	chr7: 65718101-65718101	C	T	intronic		De novo					-	-	Yuen2017 G
TPST1	SP0043703	chr7: 65706273-65706273	G	T	intronic		De novo					-	-	Fu2022 E
TPST1	AU3605304	chr7: 65712954-65712954	A	G	intronic		De novo					-	-	Yuen2017 G
TPST1	AU3703302	chr7: 65824624-65824624	G	C	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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